A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3674229



Internal ID18625824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147291943..147404481hg38UCSC Ensembl
Innerchr7:146989035..147101573hg19UCSC Ensembl
Innerchr7:146619968..146732506hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38112539
hg19112539
hg18112539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1033398
Supporting Variants
Samples
Known GenesCNTNAP2, MIR548F4, MIR548I4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3674229
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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